| Variant ID | 15035 |
|---|---|
| Entrez Gene ID | 60529 |
| Gene | ALX4 (GeneCards) |
| Location | hg19 11:44323173-44323173
hg38 11:44301623-44301623 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.44323173 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5016 |
| CADD Raw score (version 1.3) | 0.01576 (Deleterious) |
| FATHMM raw prediction score | 0.18431 (Tolerated) |
| Deleterious probability by DeFine | 0.7279 (Deleterious) |
| Entrez Gene ID | 60529 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ALX4 (GeneCards) |
| Number of variants in ALX4 in this database | 4 (view all the variants) |
| Full name | ALX homeobox 4 |
| Band | 11p11.2 |
| Other IDs | Vega: OTTHUMG00000166557 OMIM: 605420 HGNC: HGNC:450 Ensembl: ENSG00000052850 |
| Other names | CRS5, FND2 |
| Summary | This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, cognitive disability, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |